Radiological features in generalized lipodystrophy.

Seven patients with congenital generalized lipodystrophy and one patient with acquired generalized lipodystrophy have been followed up for 38 years. Various radiological techniques have been used, and the major findings are summarized. All patients had an advanced skeletal age. A sclerotic skeleton was a major feature in childhood in the congenital form, later turning into osteolytic lesions or more distinct sclerotic patches in adolescence or early adulthood. In the acquired form the skeleton was slightly osteoporotic without cystic changes. Ultrasonography and computerized tomography examinations revealed hepatosplenomegaly with fatty infiltration in both types. Lack of subcutaneous and intraabdominal fat was easily confirmed with computerized tomography. Five patients with the congenital for underwent pneumoencephalography, which revealed dilated brain ventricles and basal cisterns. Cardiomegaly and large kidneys were also a major feature.